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显示项目 106-130 / 213 (共9页)
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机构 日期 题名 作者
中國醫藥大學 2012-03 Unexplained shortening of the long bones in the third trimester as the only prenatal feature in a male fetus with 45,X/46,X,r(Y) mosaicism 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Ming Chen);蔡輔仁(Fuu-Jen Tsai);(Yi-Yung Chen);(Gwo-Chin Ma);(Shun-Ping Chang);(Jun-Wei Su);(Yu-Ting Chen);(Wen-Lin Chen);(Li-Feng Chen);(Wayseen Wang)
中國醫藥大學 2012-03 Prenatal ultrasound demonstration of scoliosis, absence of one rib, a radial club hand, congenital heart defects and absent stomach in a fetus with VACTERL association 陳持平(Chih-Ping Chen)*;(Jin-Chung Shih);(Ming-Chao Huang);(Yu-Peng Liu);(Jun-Wei Su);(Schu-Rern Chern);(Wayseen Wang)
中國醫藥大學 2012-03 Prenatal ultraousnd and magnetic resonance imaging findings of fetal akinesia deformation sequence with multiple pterygium syndrome 陳持平(Chih-Ping Chen)*;(Jin-Chung Shih);(Chen-Yu Chen);(Yu-Peng Liu);(Schu-Rern Chern);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學 2012-03 Rapid aneuploidy diagnosis of partial trisomy 7q (7q34->qter) and partial monosomy 10q (10q26.12->qter) by array comparative genomic hybridization using uncultured amniocytes 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Dai-Dyi Town);(Li-Feng Chen);(Meng-Shan Lee);(Wayseen Wang)
中國醫藥大學 2012-03 Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification using uncultured amniocytes in pregnancy with major fetal structural abnormalities 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Chih-Long Chang);(Yi-Yung Chen);(Jun-Wei Su);(Schu-Rern Chern);(Wayseen Wang)
中國醫藥大學 2011-12 Pure interstitial duplication of chromosome 7q (7q31.2->q33) in a 4-year-old girl with growth restriction, short stature, speech delay and mental retardation 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Meng-Shan Lee);(Yen-Jiun Chen);(Wayseen Wang)
中國醫藥大學 2011-12 Perinatal magnetic resonance imaging demonstration of duplication of the right renal collecting system with ipsilateral hydronephrosis and hydroureter, and contralateral renal hypoplasia 陳持平(Chih-Ping Chen)*;(Jeng-Daw Tsai);(Chin-Yuan Hsu);(Tung-Yao Chang);(Yu-Peng Liu);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學 2011-12 A de novo duplication of chromosome 21q22.11->qter associated with Down syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings 陳持平(Chih-Ping Chen)*;(Hsu-Kuaing Huang);(Pei-Ying Lin);(Yi-Ning Su);(Ming Chen);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Schu-Rern Chern);(Yu-Ting Chen);(Chen-Chi Lee);(Wayseen Wang)
中國醫藥大學 2011-12 A 20.5-Mb germline deletion of 13q13.1->q14.3 and somatic mutations of the RB1 gene in an 8-year-old girl with unilateral retinoblastoma, developmental delay and mental retardation 陳持平(Chih-Ping Chen)*;(Ling-Yuh Kao);(Yi-Ning Su);(Ming Chen);(Shueen-Dyh Chang);(Wayseen Wang)
中國醫藥大學 2011-09 Self-injurious behavior associated with trisomy 9p (9p13.1->p24.3) 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Wen-Lin Chen);(Wayseen Wang)
中國醫藥大學 2011-09 Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy, facial asymmetry, psychomotor retardation, kyphoscoliosis, dermatofibrosarcoma and multiple exostoses 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Ming Chen);(Yi-Ning Su);(Schu-Rern Chern);(Tao-Yeuan Wang);(Yu-Peng Liu);蔡輔仁(Fuu-Jen Tsai);(Chen-Chi Lee);(Yen-Jiun Chen);(Wayseen Wang)
中國醫藥大學 2011-09 A 24.2-Mb deletion of 4q12->q21.21 characterized by array CGH in a 13?-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Li-Feng Chen);(Wayseen Wang)
中國醫藥大學 2011-09 Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review 陳持平(Chih-Ping Chen)*;(Ming Chen);(Yi-Ju Pan);(Yi-Ning Su);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Yu-Ting Chen);(Wayseen Wang)
中國醫藥大學 2011-09 De novo duplication Xq22.1->q24 with a disruption of the NXF geen cluster in a mentally retarded woman with short stature and premature ovarian failure 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Hung-Hung Lin);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Chen-Chi Lee);(Yu-Ting Chen);(Wayseen Wang)
中國醫藥大學 2011-09 Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Yi-Yung Chen);(Schu-Rern Chern);(Yu-Peng Liu);(Pei-Chen Wu);(Chen-Chi Lee);(Yu-Ting Chen);(Wayseen Wang)
中國醫藥大學 2011-09 Prenatal diagnosis and molecular cytogenetic characterization of a mosaic derivative Y chromosome derived from a de novo unbalanced reciprocal Yq;13q translocation 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Ming Chen);(Jain-Pei Huang);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Wen-Lin Chen);(Wayseen Wang)
中國醫藥大學 2011-09 Prenatal diagnosis of directly transmitted benign 4q12-q13.1 quadruplication associated with tandem segmental amplifications of the LPHN3 gene 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Yu-Ting Chen);(Wen-Lin Chen);(Lee James Hsu);(Wayseen Wang)
中國醫藥大學 2011-09 Prenatal diagnosis of mosaic trisomy 2: discrepancy between molecular cytogenetic analyses of uncultured amniocytes and karyotyping of cultured amniocytes in a pregnancy with severe fetal intrauterine growth restriction 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Shin-Yu Lin);(Schu-Rern Chern);(Yu-Ting Chen);(Meng-Shan Lee);(Wayseen Wang)
中國醫藥大學 2011-09 Mosaic ring chromosome 4 in a child with mild dysmorphisms, congenital heart defects and developmental delay 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Chen-Chi Lee);(Wayseen Wang)
中國醫藥大學 2011-09 Prenatal diagnosis of limb-body wall complex with craniofacial defects 陳持平(Chih-Ping Chen)*;(Yi-Yung Chen);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學 2011-09 Chromosome 15q overgrowth syndrome: prenatal diagnosis, molecular cytogenetic characterization and perinatal findings in a fetus with dup(15)(q26.2q26.3) 陳持平(Chih-Ping Chen)*;(Yi-Hui Lin);(Heng-Kien Au);(Chin-Yuan Hsu);(Yu-Peng Liu);(Pei-Chen Wu);(Schu-Rern Chern);(Yu-Ting Chen);(Li-Feng Chen);(Adam Hwa-Ming Hsieh);(Wayseen Wang)
中國醫藥大學 2011-09 Prenatal diagnosis of microvillus inclusion disease 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Schu-Rern Chern);(Pei-Chen Wu);(Wayseen Wang)
亞洲大學 2011-06 Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo interstitial deletion of chromosome 20p 陳持平;Chen, Chih-Ping;Yi-Ning Su;Schu-Rern Chern;Fuu-Jen Tsai;Pei-Chen Wu;Chen-Chi Lee;Wayseen Wang
中國醫藥大學 2011-06 Rapid aneuploidy diagnosis by array comparative genomic hybridization using uncultured amniocytes in a pregnancy with fetal nuchal edema and mild ascites 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Pei-Chen Wu);(Chen-Chi Lee);(Chen-Wen Pan);(Wayseen Wang)
中國醫藥大學 2011-06 Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic isochromosome 20q detected at amniocentesis 陳持平(Chih-Ping Chen)*;(Jui-Der Liou);(Chi-Hsin Chiang);(Yi-Ning Su);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Yu-Ting Chen);(Chen-Chi Lee);(Wen-Lin Chen);(Wayseen Wang)

显示项目 106-130 / 213 (共9页)
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